ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.712A>T (p.Lys238Ter) (rs764585158)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627299 SCV000748291 likely pathogenic not provided 2018-03-27 criteria provided, single submitter clinical testing The K238X variant in the SACS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The K238X variant is not observed in large population cohorts (Lek et al., 2016). We interpret K238X as a likely pathogenic variant.

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